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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: proukakis c. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV. Toffoli M, et al. Among authors: proukakis c. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.
Mead SH, Proukakis C, Wood N, Crosby AH, Plant GT, Warner TT. Mead SH, et al. Among authors: proukakis c. J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):788-91. doi: 10.1136/jnnp.71.6.788. J Neurol Neurosurg Psychiatry. 2001. PMID: 11723204 Free PMC article.
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. Patel H, et al. Among authors: proukakis c. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134148
111 results